| Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence. | |
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MedLine Citation:
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PMID: 12081775 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE:s To confirm linkage to microsatellite markers on chromosome 8q, 12q, 13q and 22q in families with nocturnal enuresis/incontinence segregating with an autosomal dominant pattern, and to determine if there is an association between the clinical subtype and these linked loci. PATIENTS AND METHODS: Families with at least three members with nocturnal enuresis in two generations were included in the study. The index patient was > or = 7 years old and had evidence of bladder dysfunction; all other family members were > or = 5 years old. Bladder dysfunction in the index patients was documented by video-urodynamics when indicated. A nycthemeral rhythm of diuresis was documented in all index patients. The clinical diagnosis of all family members was based on a questionnaire on voiding problems and micturition habits, uroflowmetry, measurement of functional bladder capacity and nocturnal diuresis. Linkage was analysed using an autosomal dominant model with a gene frequency equal to 0.05 and a penetrance of 0.9. RESULTS: Thirty-two families with nocturnal enuresis/incontinence (one with four, 25 with three and six with two generations) were included. The mean number of persons included per family was 10 and on average five members were symptomatic. Linkage of nocturnal enuresis to a region on chromosome 22q11 was found in nine families, to 13q13-14 in six and to 12q in four. There was no convincing evidence for linkage to chromosome 8q. Clinical findings in the proband and their family members with possible linkage to a given locus were heterogeneous, and hence no clear genotype/phenotype correlation could be postulated. CONCLUSION: These findings support the hypothesis of the genetic and phenotypic heterogeneity of nocturnal enuresis/incontinence. Putative linkage was confirmed to the same chromosomal loci as in previous studies of 'monosymptomatic' enuresis and different phenotypes were linked to the same loci. |
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Authors:
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B Loeys; P Hoebeke; A Raes; L Messiaen; A De Paepe; J Vande Walle |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: BJU international Volume: 90 ISSN: 1464-4096 ISO Abbreviation: BJU Int. Publication Date: 2002 Jul |
Date Detail:
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Created Date: 2002-06-25 Completed Date: 2002-09-09 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 100886721 Medline TA: BJU Int Country: England |
Other Details:
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Languages: eng Pagination: 76-83 Citation Subset: IM |
Affiliation:
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Department of Paediatric Nephrology, Ghent University Hospital, Belgium. Bart.Loeys@rug.ac.be |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool Chromosomes, Human, Pair 12 / genetics Chromosomes, Human, Pair 13 / genetics Chromosomes, Human, Pair 22 / genetics Chromosomes, Human, Pair 8 / genetics Enuresis / genetics* Female Humans Male Microsatellite Repeats Pedigree Phenotype Urodynamics Video Recording |
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